MCID: CHR359

Chronic Infections, Due to Mbl Deficiency malady

Summaries for Chronic Infections, Due to Mbl Deficiency

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Looking for an antibody for researching chronic infections, due to mbl deficiency?

MBL2 antibody
OMIM:46 Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of...614372 more...

MalaCards based summary: Chronic Infections, Due to Mbl Deficiency An important gene associated with Chronic Infections, Due to Mbl Deficiency is MBL2 (mannose-binding lectin (protein C) 2, soluble). Affiliated tissues include liver.

Aliases & Classifications for Chronic Infections, Due to Mbl Deficiency

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Chronic Infections, Due to Mbl Deficiency, Aliases & Descriptions:

Name: Chronic Infections, Due to Mbl Deficiency 46


Related Diseases for Chronic Infections, Due to Mbl Deficiency

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Symptoms for Chronic Infections, Due to Mbl Deficiency

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Clinical features from OMIM:

614372

Drugs & Therapeutics for Chronic Infections, Due to Mbl Deficiency

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Drug clinical trials:

Search ClinicalTrials for Chronic Infections, Due to Mbl Deficiency

Search NIH Clinical Center for Chronic Infections, Due to Mbl Deficiency

Genetic Tests for Chronic Infections, Due to Mbl Deficiency

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Anatomical Context for Chronic Infections, Due to Mbl Deficiency

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MalaCards organs/tissues related to Chronic Infections, Due to Mbl Deficiency:

32
Liver

Animal Models for Chronic Infections, Due to Mbl Deficiency or affiliated genes

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Publications for Chronic Infections, Due to Mbl Deficiency

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Variations for Chronic Infections, Due to Mbl Deficiency

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Clinvar genetic disease variations for Chronic Infections, Due to Mbl Deficiency:

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id Gene Name Type Significance SNP ID Assembly Location
1MBL2NM_000242.2(MBL2): c.161G> A (p.Gly54Asp)single nucleotide variantPathogenic, risk factorrs1800450GRCh37Chr 10, 54531235: 54531235
2MBL2NM_000242.2(MBL2): c.170G> A (p.Gly57Glu)single nucleotide variantPathogenic, risk factorrs1800451GRCh37Chr 10, 54531226: 54531226
3MBL2NM_000242.2(MBL2): c.154C> T (p.Arg52Cys)single nucleotide variantPathogenic, risk factorrs5030737GRCh37Chr 10, 54531242: 54531242

Expression for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Expression patterns in normal tissues for genes affiliated with Chronic Infections, Due to Mbl Deficiency

Search GEO for disease gene expression data for Chronic Infections, Due to Mbl Deficiency.

Pathways for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Compounds for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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GO Terms for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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Products for genes affiliated with Chronic Infections, Due to Mbl Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chronic Infections, Due to Mbl Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet